Varaico: Literature-Extracted Genetic Variants

ANKRD17

143 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of ankyrin repeat-containing proteins, and contains two distinct arrays of ankyrin repeats in its amino-terminal region, one with 15 ankyrin repe...

Pfam Domains

Ank_2aa 238–331UCSCAnkyrin repeats (3 copies)

Ank_2aa 323–397UCSCAnkyrin repeats (3 copies)

Ank_2aa 390–464UCSCAnkyrin repeats (3 copies)

Ank_2aa 462–530UCSCAnkyrin repeats (3 copies)

Ank_2aa 528–594UCSCAnkyrin repeats (3 copies)

Ank_2aa 568–660UCSCAnkyrin repeats (3 copies)

Gene Aliases

HGNC Name

ankyrin repeat domain 17

HGNC Alias Symbols

GTAR; KIAA0697; FLJ22206; NY-BR-16; MASK2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032217.5

p.E824K

c.2470G>A

Surrounding Variants

1 paper

NM_032217.5

p.K828K

c.2484G>A

1 paper

NM_032217.5

p.Q831insFs

c.2491_2492insCT

1 paper

NM_032217.5

p.G813_K814Fs

c.2437_2440delinsTGFs

1 paper

NM_032217.5

p.E836E

c.2508A>G

1 paper

NM_032217.5

p.A838T

c.2512G>A

1 paper

NM_032217.5

p.T844I

c.2531C>T

1 paper

NM_032217.5

p.Q802R

c.2405A>G

1 paper

NM_032217.5

p.K861E

c.2581A>G

1 paper

NM_032217.5

p.S785N

c.2354G>A

1 paper

NM_032217.5

p.Q782*

c.2344C>T

1 paper

NM_032217.5

p.E867D

c.2601G>T

1 paper

NM_032217.5

p.Q894Q

c.2682A>G